rs569826109, CERKL

N. diseases: 2
Disease: Retinitis Pigmentosa 26 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa 26
CUI: C1842127
Disease: Retinitis Pigmentosa 26
0.700 GeneticVariation UNIPROT A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. 18978954 2008
Retinitis Pigmentosa 26
CUI: C1842127
Disease: Retinitis Pigmentosa 26
0.700 GeneticVariation UNIPROT Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 14681825 2004